Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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1041 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Corneodesmosin |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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CDSN |
SynonymsGene synonyms aliases
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HTSS, HTSS1, HYPT2, PSS, PSS1 |
ChromosomeChromosome number
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6 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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6p21.33 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes a protein found in corneodesmosomes, which localize to human epidermis and other cornified squamous epithelia. The encoded protein undergoes a series of cleavages during corneocyte maturation. This gene is highly polymorphic in human pop |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
Q15517 |
Protein name |
Corneodesmosin (S protein) |
Protein function |
Important for the epidermal barrier integrity. |
Family and domains |
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Sequence |
MGSSRAPWMGRVGGHGMMALLLAGLLLPGTLAKSIGTFSDPCKDPTRITSPNDPCLTGKG DSSGFSSYSGSSSSGSSISSARSSGGGSSGSSSGSSIAQGGSAGSFKPGTGYSQVSYSSG SGSSLQGASGSSQLGSSSSHSGNSGSHSGSSSSHSSSSSSFQFSSSSFQVGNGSALPTND NSYRGILNPSQPGQSSSSSQTSGVSSSGQSVSSNQRPCSSDIPDSPCSGGPIVSHSGPYI PSSHSVSGGQRPVVVVVDQHGSGAPGVVQGPPCSNGGLPGKPCPPITSVDKSYGGYEVVG GSSDSYLVPGMTYSKGKIYPVGYFTKENPVKGSPGVPSFAAGPPISEGKYFSSNPIIPSQ SAASSAIAFQPVGTGGVQLCGGGSTGSKGPCSPSSSRVPSSSSISSSSGSPYHPCGSASQ SPCSPPGTGSFSSSSSSQSSGKIILQPCGSKSSSSGHPCMSVSSLTLTGGPDGSPHPDPS AGAKPCGSSSAGKIPCRSIRDILAQVKPLGPQLADPEVFLPQGELLDSP
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Sequence length |
529 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Asthma |
Asthma |
rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283 |
27611488 |
Behcet syndrome |
Behcet Syndrome |
rs886040969, rs886039866, rs746055479, rs752615209, rs774164456, rs751454741 |
23001997 |
Hypotrichosis simplex |
Hypotrichosis Simplex of Scalp |
rs121913026, rs201249971 |
12754508, 22875505 |
Multiple sclerosis |
Multiple Sclerosis |
rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544 |
17660530 |
Peeling skin syndrome |
PEELING SKIN SYNDROME, Peeling skin syndrome type B |
rs398122804, rs387906689, rs387906841, rs672601343, rs606231275, rs606231277, rs747711488, rs149474339, rs374612640, rs1050823116, rs1553219199, rs1246486951, rs755087362 |
20691404, 23957618 |
Rheumatoid arthritis |
Rheumatoid Arthritis |
rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212 |
19503088 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Dwarfism |
Dwarfism |
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Graves disease |
Graves Disease |
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21900946 |
Hypotrichosis simplex of the scalp |
Hypotrichosis simplex of the scalp |
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Onycholysis |
Onycholysis |
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Oral ulcer |
Oral Ulcer |
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30837455 |
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